Somatic and gametic chromosomal aberrations

Chromosomal aberrations are numerical or structural deviations from the normal sturcture of the karytoype.

Somatic chromosomal aberrations[edit | edit source]

it is not passed on to offspring
in the early stages of the development of the zygote - a mosaic occurs, syndromes similar to gametic chromosomal aberrations occur
postnatally, they usually mean the formation of tumors
numerical and structural aberrations
for example, the Philadelphia chromosome – t(9;22) in CML, translocation t(8;14) in Burkitt's lymphoma, etc.

Wolf-Hirschhorn syndrome

DiGeorge Syndrome

nondisjunction in meiosis I results in a gamete with 2 different (one from the father, one from the mother) or none of the pair of chromosomes in which the nondisjunction took place
nondisjunction in meiosis II results in a gamete with 2 identical (both from the father or the mother) or none of the pairs of chromosomes in which nondisjunction occurred
polyploidy – it is the multiplication of entire sets of chromosomes, genomic aberrations (hydatiform moles arise, incompatible with life)
aneuploidy – trisomy (Down syndrome, Patau syndrome, Edwards syndrome, Klinefelter syndrome, XXX syndrome, XYY syndrome) or monosomy (Turner's syndrome)

deletion (deletion syndromes: Cri du chat syndrome (5th chromosome), deletion form of Turner syndrome; microdeletion syndromes: Wolf-Hirschhorn syndrome (4th chromosome), Prader-Willi and Angelman syndrome (15th chromosome), DiGeorge syndrome , etc.) – terminal and interstitial deletion
duplication
insertion
inversion
ring chromosome
chromosome marker
dicentric chromosome
translocation – reciprocal and Robertsonian
isochromosome

Translocation - Down Syndrome

OTOVA, Berta, et al. Medical biology and genetics I. vol. 1st edition. Prague: Karolinum, 2008. 123 pp. ISBN 978-80-246-1594-3 .